Background
Changes in population health needs [1] necessitate new healthcare strategies, including the introduction of advanced practice roles such as advanced practice nurses [2]. The International Council of Nursing [3] defines an Advanced Practice Nurse as a nurse who has acquired expert knowledge, complex decision-making skills, and clinical competencies through additional education, with these characteristics shaped by the context in which they are credentialed to practice.
A concept analysis by Dowling et al. [4] highlights the confusion surrounding the definition of advanced practice nurses, noting disparities in practice and educational requirements across different countries and contexts, a variety of roles performed, a range of associated degrees and titles (including clinical nurse specialist, nurse practitioner, midwife, and clinical nurse consultant), and challenges in identifying the contributions of advanced practice nurses in healthcare [2; 5, 6].
Anzeige
Nurses have a holistic approach to personal care due to their training. Recent discoveries in genetics have brought about a paradigm shift in healthcare. Nurses, who have always played a significant role in educating and informing patients and their families during the care process, are increasingly being sought after by individuals with diseases of potential genetic origin. These individuals seek information related to their pathology, as well as the effects it may have on their lives and the lives of their families, in order to make informed decisions for the future [7]. However, there is an ongoing controversy among nurses as to whether genetic counseling should be a part of their practice [8], highlighting the need for further clarity and consensus regarding the role of nursing in genetic care. As the demand for genetic-related care grows, the role of the genetics nurse has emerged, requiring specific specialization to address the complex needs of patients and families navigating genetic risks.
A genetic nurse is a professional with specialized and in-depth knowledge in the genetic field. According to Greco [9], genetic nursing is a holistic practice that encompasses the evaluation, planning, implementation, and evaluation of the physical, ethical, spiritual, and psycho-social dimensions of patients and family members with genetic issues. Moreover, the International Society of Nurses in Genetics (ISONG) has defined Genetics Nursing as “the protection, promotion, and optimization of health and abilities, prevention of illness and injury, alleviation of suffering through the diagnosis of human response, and advocacy in the care of the genetic and genomic health of individuals, families, communities, and populations. This includes health issues, genetic conditions, and diseases or susceptibilities to diseases caused or influenced by genes in interaction with other risk factors that may require nursing care” (p.2) [10]. Therefore, it is a holistic approach to the management of individuals with genetic conditions, susceptibilities to diseases influenced by genes in interaction with other risk factors, and health issues that require nursing care, ranging from disease prevention to treatment and psychological support. As per ISONG’s manifesto [10], nurses with appropriate training can perform specific activities such as: providing comprehensive care and support to individuals and families, gathering information about potential genetic conditions or predispositions to diseases, offering psychosocial support to individuals and families and helping them understand the implications of their genetic and make informed decisions about their healthcare, facilitating the execution of genetic testing, and educating the clients and their families.
Genetic nursing is a well-established aspect of nursing practice in countries such as the USA, Canada, and Great Britain, and has recently been introduced in other countries such as Israel, Japan, South Africa, and Korea [8]. In fact, there was consensus that the majority of tasks could be carried out by genetic nurses and clinical geneticists. Both professionals agreed that activities such as collecting family histories, conducting risk assessments, educating patients, and providing psychological assessment and support were suitable for nurses. However, they considered activities like medical examination, managing complex cases, and making diagnoses to be the exclusive responsibility of clinical geneticists [11].
However, genetic nursing has been poorly addressed in Italy yet, where there is no legal recognition, or awareness among healthcare professionals [12, 13]. Notably, an experience in Italy involving a geneticist-supervised, nurse-driven genetic counseling process for women with uninformative BRCA test results has demonstrated a positive patient experience and adequate retention of information regarding the management of personal and familial cancer risk [14].
Anzeige
Methods
Aim
The aim of this study was to understand perceived roles and activities of nurses employed in genetic clinics in Italy.
Design
A qualitative study was conducted using focus groups and individual interview approach [15] with Italian nurses adopting a descriptive phenomenological method to understand the perspective of nurses with a working experience in one of the genetic clinics in Italy by exploring their feelings, experiences, and perceptions [16]. This study was designed and reported and followed the consolidated criteria for reporting qualitative studies (COREQ) checklist.
Theoretical framework
The research is grounded in the constructivist paradigm, where reality is understood as a series of diverse mental constructions, each with subjective validity relative to its reference framework. These socially and experientially derived constructions are considered to be local and specific in form and content. Knowledge is generated through the interaction between the researcher and the participants, with interpretations made using hermeneutical methods. This involves comparing and contrasting through a dialectical process to achieve a more advanced and sophisticated understanding than previously held [17, 18]. Investigating the role of nursing necessitates recognizing nursing as a distinct discipline. The components of a qualitative research design, guided by nursing’s disciplinary epistemology, will ensure a logical and coherent reasoning process in our studies, aligned with the nature and structure of practical knowledge [19]. Furthermore, the study holds significant relevance for both the nursing profession and the care provided to patients and families.
Study setting and recruitment
Italian genetic clinics were hand-searched to identify potential participants. Thirty-six genetic clinics webpage were identified by authors (LG, CB, MS, MG, SB); emails were sent to the heads of 29 genetic clinics for which contact data were retrieved asking about the presence of nurses in the respective unit. The presence of at least one nurse (range from one to three) was reported in nine. The 21 nurses so identified were contacted via mail or by office telephone (n = 21). Finally, 14 nurses were included in this study. Figure 1 shows the recruitment process.
Fig. 1
The recruitment process
×
![]()
Inclusion and/or exclusion criteria
Participants were invited to take part in the study if they were:
-
nurses;
-
working or having worked in a genetic clinic in Italy;
-
able to give informed consent;
-
able to speak Italian fluently.
Nurses were excluded from the study if they were:
Anzeige
-
not consenting to the study.
Data collection
The research involved three focus groups and one individual interview, which were carried out and recorded through Microsoft Teams between April and November 2022. Focus groups and individual interview were conducted and moderated by the authors (LG, DT, LV). LG is a genetic nurse with over 10 years of experience, while DT and LV are medical geneticists with expertise in communication and oncological genetics. All three (LG, DT, and LV) also have experience in qualitative research, ensuring methodological rigor and sensitivity during data collection. SB, a nursing student, collaborated as an observer in the focus groups and interviews, providing additional support to the research process. The length of the focus groups and individual interview ranged from 27 to 138 min (Supplementary Material Table S1).
After introducing the group discussion using the standard recommended format [20], i.e., a welcome, overview of the topic, research goal, and ground rules such as actively listening, avoiding interruptions, and using the hand raise button to indicate their desire to speak. Following the focus group/individual interviews, some socio-demographic information was collected to describe the type and main characteristics of the participants. The number of focus groups/individual interviews has been defined on the basis of the number of participants who have decided to join. Each focus group was limited to a maximum of eight participants, a number established in qualitative research to ensure adequate interaction within the group and sufficient time for individual narratives to emerge [21, 22]. In order to collect the data, there was no structured interview guide beyond an initial question: “Which are (or which were) your role and your activity in genetic clinics?”. This approach allowed the interview to be flexible and responsive to participants’ narratives. Additional probing questions were used spontaneously by interviewers to support participants in telling and enriching their narrative, encouraging the interviewee and helping him/her to be clearer, loosening defenses and verifying the interpretation of the answers. In addition, questions such as “can you kindly explain what you mean by . “; " Can you tell us more about .“. Or repeating the same words of the interviewees (Supplementary Material Table S2).
Data analysis
The first step for the analysis and interpretation of the focus groups and individual interview was the transcription of the audio recordings. More in details, all the recordings were transcribed verbatim (by SB), with names and other identifying material altered to ensure confidentiality. Transcriptions were checked by CEM, who also listened to the audio recordings. Data were analyzed using Colaizzi’s descriptive phenomenological method, which seeks to understand the true nature of a phenomenon under study [17, 18]. This analytical strategy provides step-by-step instructions that led to a succinct description of the phenomena. The research team went through an iterative process detailed in Fig. 2. First of all, all of the interviews were read and reread by SB and CEM once the data had been transcribed to reach a confident understanding of its content.
Anzeige
Fig. 2
Summary of analytical process
×
![]()
During this phase, distinctive words and feelings were also recorded. Then, important statements in the transcripts that were particularly significant to the phenomenon under research were recorded on a separate Microsoft Excel spreadsheet reporting page and line numbers. Using the significant statements, meanings relevant to the phenomenon were recorded on a separate spreadsheet. The identified meanings were then organized into categories that mirrored the distinct design of the clustered themes and were then entered into a separate spreadsheet. Then, all formulated meanings connected to the topic under research were categorized into each cluster. Identified themes were created by combining the clustered themes into a single group and re-analysed by themes composed by SB, CEM and LG, expert researcher in qualitative research, to check the accuracy of the overall thematic map. Subsequently, SB and CEM wrote a comprehensive account of the phenomenon that included the ideas generated in earlier phases. The description was checked for rigor by LG. Descriptive phenomenological analysis was performed on the Italian transcribed interviews; identified themes, theme clusters, and quotes were then translated from Italian into English.
Ethical considerations
The study followed the principles of the Declaration of Helsinki and obtained ethics approval from the Ethics Committee of the University of Bologna on August 5th 2022 (approval number 186448). The participants were informed of the details of the study, including its voluntary nature, the option to withdraw at any time, and the confidential handling of all collected data. They were informed that no individual would be identified in quotes or in the study results and provided their informed consent at the beginning of each focus group or individual interview. The original interview files and transcripts were only accessible to the research team and maintained strict confidentiality.
Rigor and reflexivity
Qualitative research is often criticized for being susceptible to researcher bias and lacking scientific rigor, reproducibility, and generalizability [23]. To mitigate this, the present study used robust qualitative research methods [17, 18] and followed standards for qualitative research [24] while also employing techniques to enhance rigor [25] during the transcription, coding, analysis, and reporting processes. In order to present the participants’ experiences objectively, we took steps to eliminate preconceived notions about the topic by utilizing a multidisciplinary team during both the interview and data analysis process. The interview questions were designed to be neutral and open-ended, giving the participants the opportunity to express their experiences. To ensure accuracy and appropriate level of detail, the data was double-checked against the audio recordings. To eliminate bias, two authors independently analysed the data, and the original data set was re-analysed after coding to collate all coded items and check for themes. The final decision was reached by consensus.
Anzeige
A process of reflexivity was also undertaken to enhance the researchers’ self-awareness regarding their approach to the phenomenon and to foster a critical self-awareness for a deeper understanding [26]. The researchers identified their status and role to maintain neutrality throughout the study. Their attitude and stance were crucial for sustaining negotiated relationships conducive to the contexts and participants under study [27]. Throughout the research, the researchers remained cognizant of their potential impact on the study’s outcomes. They examined their own subjectivity and relationship to the research object, as well as the influence of their interactions with participants. To minimize their impact during data collection, researchers demonstrated interest in participants’ responses without expressing personal opinions. Reflections on the researchers’ positionality and potential influence on the research outcomes were meticulously documented in a field diary.
Results
Twenty-one invitations were sent to potential participants, of which 15 were accepted and 14 (93.3%) were interviewed (Fig. 1). As shown in Table 1, the participants’ ages ranged from 26 to 65 years, with a mean age of 53.07 years. The majority of participants were female (n = 13; 92.9%).
Table 1
Characteristics of participants
Age (years) | ||
Mean ± SD; Range | 53.07 ± 8.40 (26–65) | |
Gender N (%) | ||
Male | 1 (7.1%) | |
Female | 13 (92.9%) | |
Nursing education N (%) | ||
Upper secondary school | 6 (42.9%) | |
University degree | 3 (21.4%) | |
Postgraduate degree | 5 (35.7%) | |
Genetics education N (%) | ||
On-the-job | 12 (85.8%) | |
University courses | 1 (7.1%) | |
Other | 1 (7.1%) | |
Genetics experience (years) | ||
Range | 3 month – 18 years | |
European Board Medical Genetics (EMBG) registration N (%) | ||
No | 13 (92.9%) | |
Yes | 1 (7.1%) | |
Years of genetic clinical experience ranged between three months and 18 years. Ten were permanently employed as generalist nurses, while four had fixed-term fellowships (Table 2).
Table 2
Description of the professional background of each participant
ID | General information |
|---|---|
Adele | She has been working in Clinical Genetics service for ten months (ongoing). She received on-the-job training in this field. Previous experience includes surgery and laboratory. |
Amelia | She has been working in Clinical Genetics service for 13 years (ongoing). She received on-the-job training in this field. Previous experience includes oncology. |
Daphne | She worked in Clinical Genetics service for three years (fellowship) representing her first job-experience. She attended specific training in genetics for healthcare field at Post graduated Certificate level (Master I level in Italy). She currently works as a nurse in orthopedics. |
Elizabeth | She has been working in Clinical Genetics service for 18 years (ongoing). She received on-the-job training in this field and she attended non-university courses with knowledge assessment. Additional training in the field of coordination. Previous experience includes operating room, surgery and management function. |
Emily | She has been working in Clinical Genetics service for three months with a fellowship (ongoing) representing her first job-experience and an additional work as a social nurse. She received on-the-job training in this field. |
Jake | He has been working in Clinical Genetics service for 14 years (ongoing). He received on-the-job training in this field. Previous experience includes operating room. |
Jamie | She has been working in Clinical Genetics service for 11 years and six months (ongoing). She received on-the-job training in this field. Previous experience includes nuclear medicine. |
Joanne | She has been working in Clinical Genetics service for one year and eight months (ongoing). She received on-the-job training in this field. Additional training in the field of coordination, management and palliative care. Previous experience includes oncology and intensive care unit. |
Lily | She worked in Clinical Genetics service for five months (fellowship) representing her first job-experience. She received on-the-job training in this field. She currently works as a nurse in pneumology. |
Margaret | She has been working in Clinical Genetics service for 14 years and one month (ongoing). She received on-the-job training in this field. Additional training in the field of coordination. Previous experience includes oncology. |
Olivia | She has been working in Clinical Genetics service for four years and three months (ongoing). She received on-the-job training in this field and she attended non-university courses. Additional training in the field of coordination. Previous experience includes oncology and intensive care unit. |
Rachel | She has been working in Clinical Genetics service for ten years and two months (ongoing). She received on-the-job training in this field. Previous experience includes intensive care unit and management function. |
Sophie | She has been working in Clinical Genetics service for four years (ongoing). She received on-the-job training in this field. Previous experience include oncology. |
Virginia | She has been working in Clinical Genetics service for nine years (ongoing). She received on-the-job training in this field. Previous experience includes intensive care unit. |
This descriptive phenomenological analysis generated a rich description of the multifaced aspects of the work of nurses working in Italian genetic clinic. Themes that emerged from the data included education, working in genetic clinics, and acknowledgment of the genetic nurse role. Table 3 shows the overall thematic map. These identified themes correspond to the most relevant factors involved in nurses’ work in Italian genetic clinics and helped to understand their experience, clarifying the general process of becoming and being genetic nurse in Italy.
Table 3
Thematic map
Themes Clusters | Identified Themes | Phenomenon Under Study |
|---|---|---|
Training acquired during studies | Education | Becoming and being a Genetic Nurse in Italy |
Training acquired in the field | ||
Future perspectives of training | ||
Getting to Clinical Genetics | Working in Genetic Clinics | |
First experience with the Clinical Genetics environment | ||
Activities and tasks | ||
Perception by nurses | Acknowledgment of the Genetic Nurse role | |
Perception by other health professionals | ||
Perception by the nursing leadership/institution |
Education
Training acquired during studies
In Italy, over the years the progressive evolution of the course of study for nurses education has been associated with a progressive, albeit minimal, inclusion of the teaching of Genetics. However, this teaching remains rather basic and little valued in the university curricula.
All, including newly graduates, felt they had limited knowledge of Genetics and faced challenges in entering the field. Participants highlight the importance of both theoretical and practical training in genetics, which can be gained during university courses and through on-the-job experience. Many participants reported not having studied genetics.
‘I didn’t know anything about genetics’ (Amelia).
Although nursing curricula have gradually included genetics education, this remains minimal and undervalued.
‘Even at school, it (genetics) was not included as a subject in the course’ (Jamie).
‘I took a Genetics class at the first year (of Nursing Degree), but it had few credits and was included in an integrated course with Biology and Chemistry. This integration itself indicates little attention to issues such as counselling and clinical care of patients with hereditary disorders and their families […] it was a very basic course’ (Emily).
To complete the theoretical information provided, the interviews show that to understand in practice the functioning and organization of activities in Medical Genetics, it would be useful to include this department in the internship path during the three-year degree.
‘during the three years (of Nursing Degree) they should also allow doing an internship in genetic clinics, including it in the curriculum, so that the person can understand if they are interested in this type of work (in genetics) or not’ (Sophie).
‘…it would be right to show that there is this possibility [of working in genetics]’ (Emily).
Implementing postgraduate genetic courses would address the current lack of education and the difficulties faced during nursing practice. Training in genetics is reported as ‘crucial’ for improving patient care, as it is directly linked to clinical practice.
‘I believe that an advanced training course or a specific master’s degree is suitable for […] (responding to) the needs of the person […] the needs that the patient and the family are asking for’ (Joanne).‘[…] I feel the need for a master’s degree after the three-year degree: a very specific thing where the whole clinical aspect, the diagnosis, the possible support to families, and these things are framed, but in my opinion, we are still a little behind’ (Lily).
Training acquired in the field
Training is sometimes obtained directly “in the field”. The impact of Genetics was not easy for each of the interviewees but for those who (and this constitutes the majority) had to make do in an attempt to understand what it was and to recover the “void” of training. The most widespread method was in fact that in the field through the guidance of experienced colleagues or self-taught.
‘(By) self-taught, I started studying the chromosomal map, genes, dominant and recessive diseases’ (Rachel).‘(A doctor) trained us in the field and taught us a lot: I came from experiences in Intensive Care and Oncology, for some things, I had to restart from the beginning’ (Olivia).
Future perspectives of training
Finally, concerning the desired nursing specialization, the interviewees are absolutely in favor of this perspective. They believe it allows each nurse the freedom to decide what to do based on their attitudes and preferences. This approach also achieves a greater goal: improving the quality of patient care.
‘After three years (degree) you cannot know everything […] it is inconceivable that you are able to work in any department (without further training) […] So why can’t I have a specialization that I have chosen, that I’m interested in, that gives me professionalism and awareness?’ (Daphne).‘I think that the specialized nurse would greatly improve Italian healthcare (Adele)’.
In real world, even those obtaining a genetics degree may end up working in unrelated departments:
‘[…] I’m a nurse and I attended the genetics postgraguate certificate’s degree in Siena […] then I had a fellowship in Clinical Genetic for a while […], but when I was employed by the hospital they sent me in another department […]’ (Daphne).‘[…] We met and managed, with willpower, to set up our center. […] here in Italy, it is really difficult […]: we fight all the time, but we continue to do so because, in my opinion, the nation certainly needs our help and our hard work for posterity’ (Elizabeth).
Working in genetic clinics
Getting to Clinical Genetics
Most of the interviewees ended up working in the field of Clinical Genetics by chance rather than by choice when they left their previous departments for health reasons or because seeking a change.
First experience with the Clinical Genetics environment
Although they were largely unaware of what they were going to do in an area generally uncovered by nurses, they became fascinated by Genetics. In some cases, they needed to build up completely new activities, which they found either difficult or stimulating.
‘I didn’t choose it (the genetics department) […] I needed a change […] I needed to get out […] (and) I questioned myself as a professional as well. […]the Medical Genetics structure wasn’t there here, so my role was just to create the role and to create a competence mapping, which was quite difficult. […] I’ve been alone for 13 years, which is challenging.’ (Margaret).‘[…] I came for health problems […], the topic interested me a lot […] it is very beautiful, very interesting and I got back into the game again” (Olivia).‘it’s very interesting (Genetics) and the work is also much more enjoyable (than my previous job)’ (Sophie).‘Starting from scratch, trying to build something that does not exist, that no one knows, has stimulated me a lot’ (Elizabeth).‘I was very happy mainly for the research aspect […] its nursing translation is a field full of possibilities, of things to discover and it is very stimulating, rather than doing the same thing every day I prefer indeterminacy’ (Emily).
Activities and tasks
Most participants reported to perform similar activities: (a) telephone triage, aimed at identifying the needs of the person and the family; (b) collection of data, family history and clinical documentation needed for clinical genetic assessment; (c) contribution to the multi-professional pre and post-test path. In only one case does the role of the nurse appear less in contact with the patient but rather organizational.
Through telephone triage, nurses described themselves as acting as a filter in situations at risk of inappropriateness, drawing on their previous experiences to enhance their skills and support patients.
‘All the screening to be done before was huge and we needed a filter otherwise it became that the whole population wanted genetic analysis’ (Amelia).
In one center, a trained nurse with several years of experience also performed post-test communication if there were no high-risk results or special situations. Effective communication is challenging because it involves understanding the underlying request and providing a response that avoids negative reactions, placing a burden on the professional.
‘It often happens to find on the other side a person who has a lot of expectations […] some people know a lot about them and know a lot about their pathologies, with incredible experiences and stories’ (Margaret).
However, their roles may differ due to poor integration into the patient care team or a lack of recognition.
‘My role is more organizational, connecting all the figures involved in this process, to ensure that everything is needed […] arrives at the laboratory in the correct timing so that the test can be performed which is aimed at a therapeutic choice’ (Emily).
In this case, the role of the nurse appeared to be less in contact with the patient and more organizational in nature. Nevertheless, emotional support is a crucial aspect of nursing, not only addressing psycho-emotional needs but also technical-scientific needs. It is in this perspective that the nurses working at Italian genetic clinics become a point of reference for their interlocutors.
‘[…] Regardless of the result, we are truly their point of reference, since the cancer patient often has various requests […] and we are also of psychological support’ (Olivia).
Acknowledgement of the genetic nurse role
Perception by nurses
Participants reported that the role of genetic nurses is often misunderstood, due to lack of awareness, poor consideration and prejudices about their potential tasks, specialistic competences and value.
More in detail, participants reported lack of awareness by other health professionals
‘What I noticed and perceived is that […] The nurse is a bit like the secretary […]. This gives a slight sense of sadness […]’ (Emily).‘[…] Unfortunately, there is not enough information […] it is thought that we take a blood sample to make a test and that’s it. Our job is thus undervalued, while all the work related to identifying risk factors and involving family members is not recognized […]’ (Sophie).
Most nurses themselves were reported not being aware of the tasks performed by nurses in a Genetic service:
‘They [other nurses] wondered what will she do there? […] They don’t have a clear perception of Genetics. […] But I myself didn’t even know, before I got to a Genetic service, that this world existed (Amelia).‘They tend to believe that since you are in a clinic you work little because you do not work on nights, Saturdays, and Sundays: a clinic is the classic place where everyone aspires to go because there is little effort. “After all, you just stay seated” […] (Daphne).
In some instances, Genetics basis and topics were felt as difficult to understand and were associated with worries.
‘[Some nurses] get very scared, they find genetics very complex, and so they’re scared’ (Jamie).
Someone, however, was reported to get interested when made aware:
‘… when I explain what I do they eventually get very interested and enthusiastic’ (Daphne).
Perception by other health professionals
Beyond misunderstanding of the practical activities carried out by nurses, there is also a lack of recognition of their intellectual contribution to the multi-professional team.
‘The nurse has always been regarded as a second-class figure, in charge of assistance (mainly physical) only, while most of the things she does are not recognized. He/she is not taken into account and is belittled by many other figures’ (Olivia).
According to the participants, where multi-professional integration effectively recognizes each profession’s roles and competence, nurses are a valuable reference and aid for other healthcare professionals.
‘It was difficult but after a few years our figure was recognized in the departments by colleagues and we are called for requests’ (Margaret).‘There was a very cohesive environment, and I was very well seen by fellow geneticists who tried to involve me in everything even from other colleagues there was enthusiasm in our figure. […] I saw the curiosity on the part of the postgraduates […] they tried to train, making me feel like a reference figure’ (Lily).‘The professor was strongly convinced they needed a nurse to do what I’m doing now. He understood the importance of the intermediate role, of a link between patient and geneticist’ (Amelia).
Perception by the nursing leadership/institution
A common complaint is the lack of consideration and awareness by the Hospital managers:
‘The Hospital managers are not aware at all… who knows it they are not interested or not even know what we do?… (Daphne).‘The health management doesn’t even know we exist’ (Margaret).We feel abandoned by the management, we are without a coordinator, we are alone’ (Rachel).
This also impact on the criteria for assignment of nurses to genetic services, due to the prejudice and the common misconception that they may represent a “refuge” rather than a place where advanced professional competences are needed:
‘The management said that I could not go to a clinic because I was too young and had to work hard elsewhere before accessing it […] I said I had a master’s degree in Genetics and I had been awarded a fellowship to carry out a clinical genetics project, but they didn’t mind (Daphne).‘The requirements to assign to clinics are a bit different because, unfortunately, one must have an objective reduction of the ability to work’ (Adele).
This lack of recognition and appreciation is associated with a disregard for previous professional training and development and a perception of nurses merely as workforce members rather than specialized professionals. Such inadequate recognition of qualifications also impacts on remuneration.
‘Having [adequate] recognition and financial compensation is a utopia (…)’ (Amelia).‘In my opinion, the problem is that at the legal level, these titles are not given importance […] A genetic nurse with a master’s degree in genetics should result in both personal gratification and financial gratification. […] Specializations must be regulated at the national level when they are also recognized at the economic level, then things will change’ (Adele).‘If during the pre-employment interview they evaluated the qualifications it would be the best thing. Not only because one is trained for that topic or theme but also because it is a topic that interests this person and therefore if we have staff happy with where he/she works, we are happy too, because if one works happily, he/she works better, he/she is more productive’ (Adele).
Moreover, since the needs are underestimated, the number of nurses assigned to genetic services is generally insufficient and challenges in performing a demanding job with limited resources are reported by most participants.
‘Here in Genetics I’m alone as a nurse’ (Adele).‘The thing that makes me most uncomfortable in here is that there are too many things to manage all at once: there is no time to start one thing and finish it and then do another calmly because we are interrupted all the time and being (few nurses) [.] It’s a bit tough. It would take a different way of working or increasing staff or a different workload’ (Virginia).
Discussion
This descriptive phenomenological study explores the perceived role and activities of nurses working in genetic clinics in Italy, identifying education, working environment and tasks and the recognition of genetic nurse as key themes. Our results underscore an inconsistency in the genetic education provided to nurses, frequently characterized as inadequate to provide competences needed to take the responsibilities of a genetic nurse. Indeed, genetics education and training for participants was mostly conducted on the job, relying on the availability and goodwill of other professionals. This approach is risky as it lacks homogeneity, and organization: nurses’ academic education should involve theoretical and basic aspects of genetics, while trainers should be adequately prepared to provide trainees with communication and practical genetics skills [28, 29]. While the education during Nursing degree schools can be viewed as leading to an intermediate level of genetic knowledge, what is scarce is the transfer of this knowledge in the technical-practical field. This creates various interrelated issues, including the inability to apply genetics in clinical practice, provide adequate care for patients and their families, and recognize the critical role of nurses [30, 31].
Although the role of genetic nurse is widely recognized in many countries, continuous efforts are being made in some European countries, such as Italy, to achieve its acknowledgment [32]. In fact, our results confirm that currently the figure of Italian genetics nurses is largely unrecognized by professionals and health institutions [33]. In order to improve this situation, it would be important to start a process at the national level to clearly establish genetic nurse competencies and plans for their acquisition, as well as reinforcing knowledge acquisition [30]. This approach would help not only to facilitate professional training but also to improve the translation of genetic competencies into clinical practice. It would help develop skills for understanding not only what to do but also how to perform certain activities [31]. However, two main barriers to initiate this process still exists.
First, in Italy the nursing role is often associated with practical activities and physical care [34]. This perception leads to the misconception that nurses working in genetics services are not doing hard work since genetics is mainly structured in outpatient clinics. However, this is a misleading association that undermines the efforts of genetic nurses. Fatigue is not only physical; mental and relational efforts are equally challenging to manage. These challenges arise not only during patient contact moments such as sampling, visits, and conversations but also after returning home. However, this matter is not new and has its roots in a general vision of the nurse as an ancillary, rather than an autonomous and intellectual professional, figure. [34]. Second, even among professionals providing genetic healthcare in Italy, attitudes toward genetic nursing are conflicting; while several clinical geneticists recognize that the presence of genetic nurses is, or would be, beneficial for their patient’s care, the position of the SIGU failed to support their role.
Such issues consequently affect the current personnel allocation system in Italy. Particularly, newly employed nurses tend to be assigned to departments randomly, instead of upon new recognition of their specialized titles or experiences [34]. This creates a situation where nurses are unable to express their preferences, leading to a lack of job satisfaction [35].
All these issues could potentially be mitigated by the recently implemented 2019–2021 contract [36], which introduced the position of the expert nurse. This enables healthcare institutions to assign professional, as well as organizational, roles to healthcare professionals with advanced training (first-level master’s degree) and significant years of service. The challenge of recognizing specialized competencies within the Italian context extends beyond the specialization in genetics to all potential specializations [37].
Advanced practice nursing in genetics would greatly benefit patients, ensuring quality assistance and job satisfaction for professionals [38, 39]. It is crucial to recognize the importance of training needs and to provide opportunities for acquiring competencies in genetics. This would not only benefit nurses but also the healthcare system as a whole, ultimately leading to better patient outcomes [35].
The lack of these members in the genetic team causes a reduction in the ability of genetic services to complement some specific needs of the patients and their families. In the literature there is no consensus regarding the optimal ratios required to deliver adequate genetics services; however, there is an expected presence of 2.33 genetic counsellors/nurses for every clinical genetics [11]. In Italy, this ratio is probably much lower, as suggested by a recent study conducted in the Emilia-Romagna Region, where 0–4 nurses every 1–6 clinicians were reported in genetic clinics [33]. Certainly, the absence of a formal recognition of the qualifications of genetics nurses exacerbates the problem, leading to an undervaluation of their role.
Strengths and limitations of the work
This study has several strengths. To the best of our knowledge, it is the first qualitative study that explores the nurses’ views on their role and activities in genetic clinics in Italy. We employed robust qualitative research methods [17, 18] adhered to standards for qualitative research [24] and used techniques to optimize rigor [25]. We guaranteed that the data had been transcribed verbatim by double-checking audio recordings; independent coding by two authors ensured that all data was considered equally. Additionally, the original dataset was reanalyzed after coding to ensure that all coded items were collated and all themes checked. The research team included experts with different backgrounds, which promoted a multidisciplinary approach to data understanding and interpretation.
Some limitations need to be acknowledged, which may have influenced the interpretation of the findings. First, participants were recruited from a hand-searching identification of genetic clinics of Italy (no official lists were available to the researchers), leading to potential missing of other institutions. Second, the findings are only based on participants’ perspective, on the views of a limited number of professionals, therefore may not reflect the whole scenario.
Recommendations for further research
Further research should focus on exploring a more comprehensive population of providers to establish a multi-professional perspective. This would involve including a broader range of participants and professional viewpoints to validate and expand upon our findings. Such research could help ensure that the results more accurately reflect the complex nature of the healthcare environment. It would provide a fuller understanding of the roles and contributions of various healthcare professionals as well as barriers and facilitators of the recognition of the genetic nurse profession in our country.
Implications for policy and practice
Institutions should acknowledge the evolving role of advanced practice nurses in genetics and the value they add to patients’ care to properly support their development and provide clear job descriptions. Decision-makers need to understand the potential adverse effects of inadequate managerial support on professional motivation, retention, job satisfaction, and care quality. Additionally, at the policy level, professional colleagues and nursing associations must work together to create regulatory mechanisms that ensure adequate training. Additionally, they must establish the legal and regulatory frameworks necessary to promote the growth of genetic nurses in Italy.
Conclusion
While in other European countries the role of the genetic nurse has developed over several decades, in Italy this role remains partial and largely unknown to many healthcare professionals and hospital managers. Our findings highlight the need to formally recognize the role of the genetic nurse in Italy. Currently, only a limited number of genetic clinics in Italy employ genetics nurses. The contribution of genetic nurses to genetic healthcare services is pivotal in delivering better care through the expertise of well-trained professionals at a lower cost, particularly in this era of great expansion of the use of genetic testing in many fields of care. This approach increases accessibility and closer interaction with patients and their families and complements the clinical work performed by medical geneticists, which is crucial for maintaining high standards in healthcare services. Consequently, there is the need to integrate Italian nurses education with theoretical lessons and internship experiences aimed at developing genetics-related skills. To understand barriers and facilitators of the genetic nurse profession in Italy further research is necessary.
Acknowledgements
The authors thank the participants of the present study for their time and dedication. The authors would also like to thank Dr Mattia Gentile for his efforts to provide information on Genetic Clinics in Italy. This research received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.
Declarations
Ethics approval and consent to participate
The study followed the principles of the Declaration of Helsinki and obtained ethics approval from the Ethics Committee of the University of Bologna on August 5th 2022 (approval number 186448). The participants were informed of the details of the study, including its voluntary nature, the option to withdraw at any time, and the confidential handling of all collected data. They were informed that no individual would be identified in quotes or in the study results and provided their informed consent at the beginning of each focus group or individual interview. The original interview files and transcripts were only accessible to the research team and maintained strict confidentiality.
Consent for publication
Not applicable.
Competing interests
The authors declare no competing interests.
Abbreviations
None.
Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by-nc-nd/4.0/.
Publisher’s note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
